Canonical Allele Identifier: CA7041682

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102868179C>T , CM000675.2:g.102868179C>T	GRCh38
NC_000013.10:g.103520529C>T , CM000675.1:g.103520529C>T	GRCh37
NC_000013.9:g.102318530C>T	NCBI36
NG_007146.1:g.27356C>T , LRG_464:g.27356C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2600C>T (ERCC5) MANE Select	NP_000114.3:p.Pro867Leu
ENST00000652225.2:c.2600C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Pro867Leu
NM_000123.3:c.2600C>T , LRG_464t1:c.2600C>T (ERCC5)	NP_000114.2:p.Pro867Leu
NM_001204425.1:c.3962C>T (BIVM-ERCC5)	NP_001191354.1:p.Pro1321Leu
NM_001204425.2:c.3962C>T (BIVM-ERCC5)	NP_001191354.2:p.Pro1321Leu
ENST00000355739.8:c.2600C>T (ERCC5)	ENSP00000347978.4:p.Pro867Leu
ENST00000375954.1:c.299C>T (ERCC5)	ENSP00000365121.1:p.Pro100Leu
ENST00000481099.1:n.720C>T (ERCC5)
ENST00000602836.1:c.3876C>T (BIVM-ERCC5)
ENST00000610537.4:c.2598C>T (ERCC5)	ENSP00000478667.1:p.Thr866=
ENST00000639132.1:c.3275C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Pro1092Leu
ENST00000639435.1:c.3962C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Pro1321Leu
ENST00000651002.1:c.*2361C>T (ERCC5)	ENSP00000498809.1:n.*2361C>T
ENST00000651055.1:n.2729C>T (ERCC5)
ENST00000651281.1:n.2968C>T (ERCC5)
ENST00000651387.1:n.2084C>T (ERCC5)
ENST00000651470.1:c.2600C>T (ERCC5)	ENSP00000498701.1:p.Pro867Leu
ENST00000652613.1:c.2096C>T (ERCC5)	ENSP00000498357.1:p.Pro699Leu
ENST00000682632.1:n.2841C>T (ERCC5)
ENST00000682869.1:n.3249C>T (ERCC5)
ENST00000683246.1:n.3377C>T (ERCC5)